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7 Treffer

Kurzansicht	E-Jahr	Zugriff	Typ	Operations
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy 2021 . Parenti, Ilaria \| Lehalle, Daphné \| Nava, Caroline \| Torti, Erin \| Leitão, Elsa \| Person, Richard \| Mizuguchi, Takeshi \| Matsumoto, Naomichi \| Kato, Mitsuhiro \| Nakamura, Kazuyuki \| de Man, Stella \| Cope, Heidi \| Shashi, Vandana \| Friedman, Jennifer \| Joset, Pascal \| Steindl, Katharina \| Rauch, Anita \| Muffels, Irena \| van Hasselt, Peter M \| petit, florence \| Smol, Thomas \| Le Guyader, Gwenaël \| Bilan, Frédéric \| Sorlin, Arthur \| Vitobello, Antonio \| PHILIPPE, Christophe \| van de Laar, Ingrid \| van Slegtenhorst, Marjon A. \| Campeau, Philippe \| Au, Ping Yee \| Nakashima, Mitsuko \| Saitsu, Hirotomo \| Yamamoto, Tatsuya \| Nomura, Yumiko \| Louie, Raymond \| Lyons, Michael \| Dobson, Amy \| Plomp, Astrid S. \| Motazacker, M. Mahdi \| Kaiser, Frank J. \| Timberlake, Andrew \| Fuchs, Sabine \| Depienne, Christel \| Mignot, Cyril	2021		http://purl.org/ontology/bibo/Article
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum 2021 . Hüffmeier, Ulrike \| Kraus, Cornelia \| Reuter, Miriam S. \| Uebe, Steffen \| Abbott, Mary-Alice \| Ahmed, Syed A. \| Rawson, Kristyn L. \| Barr, Eileen \| Li, Hong \| Bruel, Ange-Line \| Faivre, Laurence \| Tran Mau-Them, Frédéric \| Botti, Christina \| Brooks, Susan \| Burns, Kaitlyn \| Ward, D. Isum \| Dutra-Clarke, Marina \| Martinez-Agosto, Julian A. \| Lee, Hane \| Nelson, Stanley F. \| Zacher, Pia \| Abou Jamra, Rami \| Klöckner, Chiara \| McGaughran, Julie \| Kohlhase, Jürgen \| Schuhmann, Sarah \| Moran, Ellen \| Pappas, John \| Raas-Rothschild, Annick \| Sacoto, Maria J. Guillen \| Henderson, Lindsay B. \| Palculict, Timothy Blake \| Mullegama, Sureni V. \| Zghal Elloumi, Houda \| Reich, Adi \| Schrier Vergano, Samantha A. \| Wahl, Erica \| Reis, André \| Zweier, Christiane	2021		http://purl.org/ontology/bibo/Article
The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype 2021 . Averdunk, Luisa \| Sticht, Heinrich \| Surowy, Harald \| Lüdecke, Hermann-Josef \| Koch-Hogrebe, Margarete \| Alsaif, Hessa S. \| Kahrizi, Kimia \| Alzaidan, Hamad \| Alawam, Bashayer S. \| Tohary, Mohamed \| Kraus, Cornelia \| Endele, Sabine \| Wadman, Erin \| Kaplan, Julie D. \| Efthymiou, Stephanie \| Najmabadi, Hossein \| Reis, André \| Alkuraya, Fowzan S. \| Wieczorek, Dagmar	2021		http://purl.org/ontology/bibo/Article
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants 2021 . Kloth, Katja \| Lozic, Bernarda \| Tagoe, Julia \| Hoffer, Mariëtte J. V. \| Van der Ven, Amelie \| Thiele, Holger \| Altmüller, Janine \| Kubisch, Christian \| Au, Ping Yee Billie \| Denecke, Jonas \| Bijlsma, Emilia K. \| Lessel, Davor	2021		http://purl.org/ontology/bibo/Article
A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects 2021 . Markus, Fenja \| Kannengießer, Annika \| Näder, Patricia \| Atigbire, Paul \| Scholten, Alexander \| Vössing, Christine \| Bültmann, Eva \| Korenke, G. Christoph \| Owczarek-Lipska, Marta \| Neidhardt, John	2021		http://purl.org/ontology/bibo/Article
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders 2021 . Mannucci, Ilaria \| Dang, Nghi D. P. \| Huber, Hannes \| Murry, Jaclyn B. \| Abramson, Jeff \| Althoff, Thorsten \| Banka, Siddharth \| Baynam, Gareth \| Bearden, David \| Beleza-Meireles, Ana \| Benke, Paul J. \| Berland, Siren \| Bierhals, Tatjana \| Bilan, Frederic \| Bindoff, Laurence A. \| Braathen, Geir Julius \| Busk, Øyvind L. \| Chenbhanich, Jirat \| Denecke, Jonas \| Escobar, Luis F. \| Estes, Caroline \| Fleischer, Julie \| Groepper, Daniel \| Haaxma, Charlotte A. \| Hempel, Maja \| Holler-Managan, Yolanda \| Houge, Gunnar \| Jackson, Adam \| Kellogg, Laura \| Keren, Boris \| Kiraly-Borri, Catherine \| Kraus, Cornelia \| Kubisch, Christian \| Le Guyader, Gwenael \| Ljungblad, Ulf W. \| Brenman, Leslie Manace \| Martinez-Agosto, Julian A. \| Might, Matthew \| Miller, David T. \| Minks, Kelly Q. \| Moghaddam, Billur \| Nava, Caroline \| Nelson, Stanley F. \| Parant, John M. \| Prescott, Trine \| Rajabi, Farrah \| Randrianaivo, Hanitra \| Reiter, Simone F. \| Schuurs-Hoeijmakers, Janneke \| Shieh, Perry B. \| Slavotinek, Anne \| Smithson, Sarah \| Stegmann, Alexander P. A. \| Tomczak, Kinga \| Tveten, Kristian \| Wang, Jun \| Whitlock, Jordan H. \| Zweier, Christiane \| McWalter, Kirsty \| Juusola, Jane \| Quintero-Rivera, Fabiola \| Fischer, Utz \| Yeo, Nan Cher \| Kreienkamp, Hans-Jürgen \| Lessel, Davor	2021		http://purl.org/ontology/bibo/Article
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males 2021 . Kreienkamp, Hans-Jürgen \| Wagner, Matias \| Weigand, Heike \| McConkie-Rossell, Allyn \| McDonald, Marie \| Keren, Boris \| Mignot, Cyril \| Gauthier, Julie \| Soucy, Jean-François \| Michaud, Jacques L. \| Dumas, Meghan \| Smith, Rosemarie \| Löbel, Ulrike \| Hempel, Maja \| Kubisch, Christian \| Denecke, Jonas \| Campeau, Philippe M. \| Bain, Jennifer M. \| Lessel, Davor	2021		http://purl.org/ontology/bibo/Article